Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK3
Variant:p.I423fs

EIF2AK3

596 papers

RefSeq Summary

The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation ...

Pfam Domains

Pkinaseaa 593–676UCSCProtein kinase domain
Pkinaseaa 864–1077UCSCProtein kinase domain

Gene Aliases

HGNC Name

eukaryotic translation initiation factor 2 alpha kinase 3

HGNC Alias Symbols

PEK; PERK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004836.7
p.I423fs
c.1267_1268fs
Surrounding Variants
1 paper
NM_004836.7
p.I423V
c.1267A>G
1 paper
NM_004836.7
p.I423insFs
c.1267dupA
3 papers
NM_004836.7
p.A422V
c.1265C>T
1 paper
NM_004836.7
p.A422G
c.1265C>G
1 paper
NM_004836.7
p.A422S
c.1264G>T
1 paper
NM_004836.7
p.A422T
c.1264G>A
1 paper
NM_004836.7
p.N421N
c.1263C>T
8 papers
NM_004836.7
p.E420delFs
c.1259delT
1 paper
NM_004836.7
p.P425R
c.1274C>G
1 paper
NM_004836.7
p.E420*
c.1258G>T
1 paper
NM_004836.7
p.T418_N419Fs
c.1254_1257delinsCGCAATCTGTCACTAACGCAATTGGTFs
1 paper
NM_004836.7
p.P427L
c.1280C>T
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